ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318338
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
977075
ClinVar RCV Id:
RCV001254597
RCV001751521
RCV002451623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ile1073Thr
CA250077094
NM_001243182.2:c.3218T>C